RGD:28906897 Rat Genome Database

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Variant: RGD:28906897 -  Homo sapiens

RGD ID: 28906897
RS ID: rs533328133
ClinVar ID: CV898852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 133,137,053
GRCh38 8 132,124,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004519.4:c.*4456A>C
NG_008854.2:g.360952A>C
NC_000008.11:g.132124806T>G
NC_000008.10:g.133137053T>G
More... 		03/01/2023 3 prime utr variant likely benign|uncertain significance Benign Neonatal Epilepsy 2; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-Related Benign Familial Neonatal Epilepsy; KCNQ3-related Disorders; none provided; Seizures, benign neonatal, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:XM_047421769
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159208 CLINVAR
  RCV003438691 CLINVAR
dbSNP (RS) rs533328133 CLINVAR
MedGen C1852581 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR